A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3985698



Internal ID18861136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:113373843..113373926hg38UCSC Ensembl
Outerchr12:113811648..113811731hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1127292
Supporting Variants
SamplesKWS1
Known GenesPLBD2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3985698
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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